Variant report

Variant	rs10144130
Chromosome Location	chr14:55914362-55914363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55913599..55916759-chr14:56004997..56009666,4	MCF-7	breast:
2	chr14:55913503..55916476-chr14:55916660..55918746,2	K562	blood:
3	chr14:55912884..55915003-chr14:55916118..55918746,2	K562	blood:
4	chr14:55911475..55914836-chr14:55916178..55919121,4	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10134905	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10137395	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10144034	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150596	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150617	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10483642	0.81[EUR][1000 genomes]
rs10782426	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11158040	0.82[ASN][1000 genomes]
rs11627790	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11845228	0.93[EUR][1000 genomes]
rs12431542	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12886860	0.84[EUR][1000 genomes]
rs12887653	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12888181	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12888191	0.89[EUR][1000 genomes]
rs12888234	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12888361	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12893964	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1572613	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2152975	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2152976	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2185036	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28478984	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34652660	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4243600	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4898865	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4901562	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4901563	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4901564	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4901565	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4901567	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4901568	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4901569	0.81[ASN][1000 genomes]
rs4901570	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56015424	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61976569	0.88[EUR][1000 genomes]
rs61976570	0.95[EUR][1000 genomes]
rs61976571	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573028	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573029	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573030	0.81[ASN][1000 genomes]
rs6573031	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573032	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs713477	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142204	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7143800	0.81[ASN][1000 genomes]
rs7146080	0.84[EUR][1000 genomes]
rs7146170	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7146269	0.92[EUR][1000 genomes]
rs7146306	0.91[EUR][1000 genomes]
rs7146472	0.93[EUR][1000 genomes]
rs7147415	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7147968	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7148481	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7149622	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72717779	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8009706	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8010013	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8014526	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8014621	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8019270	0.81[ASN][1000 genomes]
rs8020152	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9635231	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs998871	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
3	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55912600-55922000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:55912800-55915600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:55912800-55915600	Enhancers	NHLF	lung
4	chr14:55912800-55916200	Enhancers	Osteobl	bone
5	chr14:55913000-55915000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:55913000-55915600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:55913000-55915600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:55913000-55919000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:55913200-55914600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:55913200-55915400	Enhancers	HSMM	muscle
11	chr14:55913200-55915600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:55913200-55915600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:55913200-55915600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:55913200-55915600	Enhancers	NHDF-Ad	bronchial
15	chr14:55913200-55915800	Enhancers	NH-A	brain
16	chr14:55913200-55916000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:55913200-55916400	Enhancers	HMEC	breast
18	chr14:55913200-55916600	Enhancers	HUVEC	blood vessel
19	chr14:55913400-55914400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:55913600-55914600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:55913600-55914800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:55913600-55921200	Weak transcription	HSMMtube	muscle
23	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:55913800-55914600	Enhancers	A549	lung
25	chr14:55913800-55914800	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:55913800-55915600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr14:55913800-55916200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:55913800-55917400	Weak transcription	Small Intestine	intestine
29	chr14:55913800-55917600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:55913800-55918200	Weak transcription	Left Ventricle	heart
31	chr14:55913800-55919200	Enhancers	Fetal Heart	heart
32	chr14:55913800-55920400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:55914000-55914400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:55914000-55914800	Enhancers	Hela-S3	cervix
35	chr14:55914000-55920600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:55914000-55920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:55914000-55921000	Weak transcription	Brain Anterior Caudate	brain
38	chr14:55914200-55914400	Flanking Active TSS	NHEK	skin
39	chr14:55914200-55915800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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